Reviewed, UniProtKB/Swiss-Prot Q13454 (TUSC3_HUMAN)

Names and origin

Protein names

Recommended name:
    Tumor suppressor candidate 3
Alternative name(s):
    Protein N33

Gene names

Name:	TUSC3
Synonyms:	N33

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	348 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May be involved in N-glycosylation through its association with N-oligosaccharyl transferase.
Subunit structure	Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B By similarity.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane proteinProbable.
Tissue specificity	Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.
Involvement in disease	Defects in TUSC3 are the cause of mental retardation non-syndromic autosomal recessive type 7 (MRT7) [MIM:611093]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Sequence similarities	Belongs to the OST3/OST6 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Mental retardation
Domain	Transmembrane
Gene Ontology (GO)
Biological process	protein amino acid N-linked glycosylation via asparagine Ref.4 Traceable author statement. Source: HGNC
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW oligosaccharyltransferase complex Inferred from direct assay. Source: HGNC
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13454-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q13454-2)

The sequence of this isoform differs from the canonical sequence as follows:
     344-348: DLDFE → FLIK

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 348	348	Tumor suppressor candidate 3		PRO_0000215300
Regions
	Transmembrane	20 – 40	21	Potential
	Transmembrane	197 – 217	21	Potential
	Transmembrane	222 – 242	21	Potential
	Transmembrane	277 – 297	21	Potential
	Transmembrane	313 – 333	21	Potential
Natural variations
	Alternative sequence	344 – 348	5	DLDFE → FLIK in isoform 2.		VSP_003776
	Natural variant	65	1	I → V: dbSNP rs11545035.		VAR_045836

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 16D97CB1E00C5190	FASTA	348	39,676
	10 20 30 40 50 60 MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA EKVEQLMEWS 70 80 90 100 110 120 SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS VCRQANEEYQ ILANSWRYSS 130 140 150 160 170 180 AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT FMHFPPKGRP KRADTFDLQR IGFAAEQLAK 190 200 210 220 230 240 WIADRTDVHI RVFRPPNYSG TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF 250 260 270 280 290 300 AMTSGQMWNH IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE 310 320 330 340 AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSDLDFE
	Isoform 2 [UniParc]. Checksum: 538641E36C51905D		347	39,558
	10 20 30 40 50 60 MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA EKVEQLMEWS 70 80 90 100 110 120 SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS VCRQANEEYQ ILANSWRYSS 130 140 150 160 170 180 AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT FMHFPPKGRP KRADTFDLQR IGFAAEQLAK 190 200 210 220 230 240 WIADRTDVHI RVFRPPNYSG TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF 250 260 270 280 290 300 AMTSGQMWNH IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE 310 320 330 340 AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSFLIK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and methylation-associated silencing of a gene within a homozygously deleted region of human chromosome band 8p22." Macgrogan D., Levy A., Bova G.S., Isaacs W.B., Bookstein R. Genomics 35:55-65(1996) [PubMed: 8661104] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
[2]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Skin.
[4]	"Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties." Kelleher D.J., Karaoglu D., Mandon E.C., Gilmore R. Mol. Cell 12:101-111(2003) [PubMed: 12887896] [Abstract] Cited for: ASSOCIATION WITH THE OLIGOSACCHARYL TRANSFERASE COMPLEX, TISSUE SPECIFICITY.
[5]	"Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation." Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G., Matthijs G., Gecz J., Munnich A., Colleaux L. Am. J. Hum. Genet. 82:1150-1157(2008) [PubMed: 18455129] [Abstract] Cited for: INVOLVEMENT IN MRT7.
[6]	"A defect in the TUSC3 gene is associated with autosomal recessive mental retardation." Garshasbi M., Hadavi V., Habibi H., Kahrizi K., Kariminejad R., Behjati F., Tzschach A., Najmabadi H., Ropers H.H., Kuss A.W. Am. J. Hum. Genet. 82:1158-1164(2008) [PubMed: 18452889] [Abstract] Cited for: INVOLVEMENT IN MRT7.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U42349 mRNA. Translation: AAB18374.1. U42359 , U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18375.1. U42360 , U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18376.1. BT020002 mRNA. Translation: AAV38805.1. BC010370 mRNA. Translation: AAH10370.1.
PIR	G02297.
RefSeq	NP_006756.2. NP_839952.1.
UniGene	Hs.591845
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000104723. Homo sapiens. [Contig view]
GeneID	7991.
KEGG	hsa:7991.
Organism-specific databases
H-InvDB	HIX0007329.
HGNC	HGNC:30242. TUSC3.
MIM	601385. gene. 611093. phenotype.
Orphanet	101685. Intellectual deficit without developmental anomaly, rare.
PharmGKB	PA128394537.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q13454.
HOVERGEN	Q13454.
Gene expression databases
ArrayExpress	Q13454.
CleanEx	HS_TUSC3.
GermOnline	ENSG00000104723. Homo sapiens.
Family and domain databases
InterPro	IPR006844. OST3_OST6. [Graphical view]
PANTHER	PTHR12692. OST3_OST6. 1 hit.
Pfam	PF04756. OST3_OST6. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30530.
SOURCE	Search...

Entry information

Entry name

TUSC3_HUMAN

Accession

Primary (citable) accession number: Q13454
Secondary accession number(s): Q14911, Q14912, Q96FW0

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	November 1, 1996
Last modified:	November 25, 2008
This is version 68 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)